Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.D562V

HGSNAT

250 papers

RefSeq Summary

This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrom...

Gene Aliases

HGNC Name

heparan-alpha-glucosaminide N-acetyltransferase

HGNC Previous Symbol

TMEM76

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_152419.3
p.D562V
c.1685A>T
Surrounding Variants
1 paper
NM_152419.3
p.V563insFs
c.1688dupT
1 paper
NM_152419.3
p.V560A
c.1679T>C
1 paper
NM_152419.3
p.G565R
c.1693G>A
1 paper
NM_152419.3
p.G565R
c.1693G>C
1 paper
NM_152419.3
p.P559A
c.1675C>G
3 papers
NM_152419.3
p.Y558*
c.1674C>A
3 papers
NM_152419.3
p.Y558*
c.1674C>G
2 papers
NM_152419.3
p.L557_Y558Fs
c.1669_1674delinsACATFs
1 paper
NM_152419.3
p.L557_Y558del0
c.1669_1674del6
1 paper
NM_152419.3
p.V556delFs
c.1667_1668delTC
1 paper
NM_152419.3
p.T570delFs
c.1708delA
7 papers
NM_152419.3
p.P571L
c.1712C>T
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